List of variants in gene HSPB1 reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2F

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)	rs145243219	0.00003
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)	rs766728475	0.00001
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)	rs764297134	0.00001
NC_000007.14:g.(?_76303782)_(76304193_?)del
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)	rs1405359814
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)	rs770272088
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)	rs770272088
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln)	rs863225022
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)	rs150110356

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